Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167276
rs1114167276
SMARCAD1
2 1.000 0.080 4 94253673 splice donor variant T/C snv 0.700 0
dbSNP: rs1560542180
rs1560542180
SMARCAD1
1 1.000 0.080 4 94253656 splice donor variant GAAGGCATAAGCACTGGT/- del 0.700 0
dbSNP: rs1560542214
rs1560542214
SMARCAD1
1 1.000 0.080 4 94253672 splice donor variant -/T delins 0.700 0